Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001034630 | SCV000814070 | pathogenic | Familial focal epilepsy with variable foci | 2019-11-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1087*) in the DEPDC5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with autosomal dominant nocturnal frontal lobe epilepsy in a family (PMID: 24814846). ClinVar contains an entry for this variant (Variation ID: 139433). Experimental studies have shown that this nonsense change is targeted through nonsense-mediated mRNA decay (NMD), leading to a decrease or abolition of the level of mutated DEPDC5 transcript (PMID: 24814846). Loss-of-function variants in DEPDC5 are known to be pathogenic (PMID: 23542697, 23542701). For these reasons, this variant has been classified as Pathogenic. |
Ce |
RCV001091574 | SCV001247700 | pathogenic | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000128400 | SCV000171998 | pathogenic | Epilepsy, familial focal, with variable foci 1 | 2014-05-09 | no assertion criteria provided | literature only | |
Gene |
RCV000128400 | SCV000211895 | pathogenic | Epilepsy, familial focal, with variable foci 1 | 2015-02-19 | no assertion criteria provided | literature only | |
Gene |
RCV000128400 | SCV000321065 | pathogenic | Epilepsy, familial focal, with variable foci 1 | 2016-04-13 | no assertion criteria provided | literature only |